Genomic variant #0001252810

Chromosome 12
DNA change (genomic) (Relative to hg19 / GRCh37) g.120794762_120794763insC
Reference Copied from the Exome Variant Server
DB-ID MSI1_000052
Frequency 20/12518
Freq. EA 9/8254
Freq. AA 11/4264
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
MSI1 NM_002442.3 ?/? c.594_595insG r.(?) p.(Arg199Glufs*180)